Tuesday, April 22, 2014

Cori Sue

For those who don't already know my sister-in-laws niece was diagnosed with MLD!! For those who don't know what MLD is I would like to give you a quick education!!

Definition:

               MLD is short for metachromatic leukodystrophy. Translated from doctor talk MLD means: meta - change, chromatic - color, leuko - white matter, dystrophy - degeneration. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS) which has a color on staining that should not be there. Staining was how the disease was observed before the advent of the MRI. -


Biochemistry:

                Basically people who are affected by MLD lack an enzyme in their blood called Arylsulfatase-A, (ARSA). Without this enzyme, sulfatides are NOT broken down and instead build-up in the white matter of the brain and CNS causing destruction of the myelin sheath, or demyelination. Without an intact myelin sheath there is a breakdown in communication between the nerves and the brain. This loss of or miscommunication - accounts for the loss of acquired functions paralysis, blindness, seizures and eventual death seen in MLD.

Types of MLD:

                Generally, there are considered to be three main types of MLD that have different ages of onset: late-infantile, juvenile, and adult. The late-infantile form of MLD is the most commonly observed form of MLD. The most common gene mutations have been identified for both the late-infantile and the adult onsets, however, there are many other less common mutations. MLD is not contagious and can not be passed to others through any sort of contact - it is a genetic condition.

See more at: http://mldfoundation.org/MLD-101-what.html#sthash.S1WX146C.dpuf


Cori Sue is a two year old little girl with MLD and it just happens that she is also my sister-in-laws niece, her brothers little girl. They live here in Houston and are such an inspiration to me. When most would have found tragedy and hopelessness with such a diagnosis they found love, and companion! They trust in God and His will and charge forward with a strength that could only come from the love they have not only towards Cori, but God as well! My heart breaks every time I read about Cori, but then I rejoice in the love and faith her parents have! They have truly inspired me to be a more faithful servant and enjoy every minute of everyday I have with my kids!

Cori Sue and her family need our help to get to Pittsburg for an MLD convention and to have a follow-up with her specialist! I pray and hope that we not only help them meet this goal but far surpass it to help cover any medical bills and things Cori Sue might need!! Please follow the link below and if you can't give SHARE on Facebook, twitter, heck smoke signal if need be just please SHARE!!!

CORI SUE's Story and Fund

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